Session | ||
Poster session
Session topics:
- Mitochondrial mechanisms in neurodegeneration and neurodevelopment - The impact of mtDNA variation and environment on rare and common diseases | ||
Presentations | ||
SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency 1Institute for Genetics, University of Cologne, Cologne 50931, Germany; 2Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Cologne 50931, Germany; 3Max Planck Institute for Biology of Ageing, Cologne 50931, Germany; 4Center for Molecular Medicine (CMMC), University of Cologne, Cologne 50931, Germany Pathobiology of cerebellar degeneration in the Harlequin mouse, a proteomic and system biology approach 1Mitochondrial and Neuromuscular Diseases Laboratory, Instituto de Investigación Sanitaria Hospital ‘12 de Octubre’ (‘imas12’), Madrid, Spain; 2Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Spain.; 3Servicio de Bioquímica Clínica. Hospital Universitario ‘12 de Octubre’. Madrid, Spain; 4Servicio de Genética. Hospital Universitario ‘12 de Octubre’. Madrid, Spain; 5Faculty of Sports Sciences, European University of Madrid, Madrid, Spain; 6Spanish Network for Biomedical Research in Fragility and Healthy Aging (CIBERFES), Madrid, Spain The role of mitochondrial transcriptional processes in the aetiology of Parkinson’s disease 1Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King’s College London, London, United Kingdom; 2Department of Genetics and Genomic Medicine Research & Teaching, UCL GOS Institute of Child Health, London, WC1N 1EH, UK; 3Department of Neurodegenerative Disease, Queen Square Institute of Neurology, UCL, London WC1N 3BG, UK; 4NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, WC1N 1EH, UK; 5Department of Information and Communications Engineering Faculty of Informatics, Espinardo Campus, University of Murcia, Murcia, 30100, Spain Towards a unitary hypothesis of Alzheimer disease pathogenesis 1Columbia University, USA; 2Centro de Investigaciones Biológicas “Margarita Salas”, Madrid, Spain An experimental protocol for in vivo imaging of brain mitochondrial properties with multiphoton microscopy Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisbon, Portugal Exploiting hiPSCs-derived astrocytes from CoPAN patients as cell model to study iron accumulation. 1San Raffaele Scientific Institute; 2Vita-Salute San Raffaele, Italy; 3Fondazione IRCCS Istituto Neurologico Carlo Besta; 4Institute of Neuroscience National Research Council Secondary mitochondrial impairment in muscle of pediatric patients unrelated to the genes diagnosed by WES: are these mitochondrial diseases? 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 3IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy; 4Child Neuropsychiatry Unit, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy; 5Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; 6Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy In vitro 2D and 3D neuronal model generation of MERRF disease to test therapeutic strategies 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; 3Department of Radiological, Oncological and Pathological Sciences, Sapienza, University of Rome, Rome, Italy; 4Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany Molecular mechanism of human mitochondrial chaperonin and its mutation in neurodegenerative disease Indiana University, United States of America Nucleus-associated mitochondria (NAM) control neuronal Ca2+ signalling and gene expression 1University of Hertfordshire, Department of Clinical, Pharmaceutical and Biological Science, Hatfield, United Kingdom; 2Discovery Research MRL UK, MSD, LBIC, London, United Kingdom; 3William Harvey Research Institute, Queen Mary University of London, London, United Kingdom; 4Proteomics Facility, Centre of Excellence for Mass Spectrometry, King’s College London, London, United Kingdom; 5University of Padua, Department of Biomedical Sciences, Padua, Italy Autophagy controls the pathogenicity of OPA1 mutations in ADOA plus 1Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro, Bari, Italy; 2Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Pisa, Italy Investigating the function of CHCHD2-CHCHD10 complexes in mitochondria 1Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA; 2Department of Neurology, Columbia University Medical Center, New York, NY, USA Sildenafil restores normal MMP in MILS-NPCs with impaired Complex V assembly and activity 1University of Verona, Italy; 2Department of General Pediatrics, Neonatology and Pediatric Cardiology, Duesseldorf University Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany; 3Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Berlin, Germany; 4Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "C.Besta", Milan, Italy; 5Mitochondrial Medicine Laboratory, Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy; 6Max Delbrueck Center for Molecular Medicine (MDC), 13125 Berlin, Germany Mitochondrial dysfunction due to mRNA transport defects as a mechanism of neurodegeneration? Unraveling the role of TBCK in a human neuronal model 1Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia; 2Division of Neurology, The Children's Hospital of Philadelphia Modelling COASY protein-associated neurodegeneration (CoPAN) in mice IRCCS Istituto Neurologico C. Besta, Italy Neural stem cell niche-interactions in mitochondrial disease University of Cambridge, United Kingdom Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q 1Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy, 40138; 2U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy, 40138; 3Center for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy, 40138; 4Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy, 40126; 5Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany, 45122; 6Department of Veterinary Sciences, University of Bologna, Bologna, Italy, 40064; 7Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany, 72076; 8Center for Rare Diseases, University of Tübingen, Tübingen, Germany, 72076; 9Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany, 45122 Characterization of a novel brain-specific mouse model of Leigh Syndrome Neuroscience Institute-Autonomous University of Barcelona, Spain Investigating FA physiopathology in human iPSC-derived DRG organoïds 1Institut NeuroMyoGene, PGNM UMR5261, INSERM U1315, Université Claude Bernard Lyon I Faculté de médecine Rockefeller, Lyon 08 France; 2UT Southwestern Medical Center, 5323 Harry Hines Blvd. Suite NL.9.108 TX75390-8813 Dallas USA A novel TUBB2A variant associated with pediatric neurodegeneration links microtubule stability to mitochondrial function 1Center for Mitochondrial and Epigenomic Medicine, The Children’s Hospital of Philadelphia; 2Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia; 3Department of Radiology, The Children’s Hospital of Philadelphia; 4Department of Pathology and Cell Biology, Columbia University Characterization and functional analysis of a zebrafish knockdown of the mitochondrial DNA replication gene ssbp1 1Institute for Neurosciences of Montpellier (INM) U1298, France; 2Molecular Mechanisms in Neurodegenerative Dementia (MMDN) U1198, France Deep mitochondrial genotyping reveals altered mitochondrial quality control mechanisms in advanced cellular models of Parkinson’s disease Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy Defining the nuclear genetic architecture of a maternally-inherited mitochondrial disorder 1Wellcome Centre for Mitochondrial Research and Institute for Translational and Clinical Research, ewcastle University, United Kingdom; 2NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 3Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU Klinikum), Munich, Germany; 4Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; 5Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK; 6Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK; 7Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 8German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 9Department of Neurology, University Hospital Bonn, Bonn, Germany; 10Neurological Institute of Pisa, Italy; 11Institute of Human Genetics, School of Medicine, Technische Universität München, München, Germany; 12Institute of Neurogenomics, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany; 13Department of Neurology, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; 14Department of Neurology, Martin-Luther-University Halle-Wittenberg, 06120 Halle (Saale), Germany; 15Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK; 16Population Health Sciences Institute, Newcastle University, UK OPA3 loss causes alterations in mitocondrial dynamics and autophagy processes 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy; 2Department of Biomedical and NeuroMotor Sciences, University of Bologna, via Altura 3, 40139, Bologna, Italy Mitochondrial fusion- and transport-specific roles in neuronal dysfunction 1Institute for Biochemistry, University of Cologne, Cologne, Germany; 2Cologne Excellence Cluster on Cellular Stress Response in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany ER-Mitochondria are affected during ageing in enteric neurons Inserm U1235, France Identification of dysregulated molecular pathways in Frataxin deficient Proprioceptive Neurons INMG-PGNM, France Mitochondrial dysfunction in dorsal root ganglia in Friedreich ataxia mouse and cell models: role of SirT3 Dept. Ciències Mèdiques Bàsiques, Fac. Medicina, Universitat de Lleida. IRBLleida. Lleida (Spain). MPTP-induced parkinsonism in zebrafish provokes chronodisruption-related loss of daily melatonin and locomotor activity rhythms and mitochondrial dynamics shift, which are restored by melatonin treatment 1Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; 2Instituto de Investigación Biosanitaria de Granada (Ibs.Granada), Granada, Spain.; 3Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERfes), Madrid, Spain. Activation of integrated mitochondrial stress response in PRKN Parkinson Disease 1Inherited metabolic diseases and muscular disorders Lab, Cellex - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Science - University of Barcelona (UB), Department of Internal Medicine - Hospital Clínic of Barcelona (HCB), 08036 Barcelona, Spain, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U722), 28029 Madrid, Spain.; 2Research Program of Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00290, Finland; HUSlab, Helsinki University Hospital, Helsinki 00290, Finland;; 3Laboratory of Parkinson Disease and Other Neurodegenerative Movement Disorders, IDIBAPS-Hospital Clínic de Barcelona, Institut de Neurociències, UB, 08036 Barcelona, Spain and Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED CB06/05/0018), 28029 Madrid, Spain.; 4Department of Clinical Biochemistry, Institut de Recerca de Sant Joan de Deu, Esplugues de Llobregat, 08036 Barcelona, Spain, and CIBERER, 28029 Madrid, Spain.; 5Department of Statistics, Biology Faculty, UB, Barcelona, Spain; 6Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain; Department of Biochemistry and Molecular Biomedicine, UB, E-08028 Barcelona, Spain; U731, CIBERER, 08028 Barcelona, Spain; Delineating the neurodegenerative mechanisms underpinning epilepsy in Alpers’ syndrome 1Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK; 2Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK; 3NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK Understanding the effects of hyperbaric oxygen therapy on Alzheimer’s disease mouse model Tel-Aviv University, Israel Analyzing the mitochondrial HPDL protein in fish and human models IRCCS Fondazione Stella Maris, Italy Modulation of mitophagy, mitochondrial and autophagy phenotypes in LRRK2 Parkinson’s patient fibroblast-derived dopaminergic neurons by small molecules 1Sheffield Institute for Translational Neuroscience (SITraN), The University of Sheffield, Sheffield, UK.; 2Verge Genomics, South San Francisco, CA, USA. Proinflammatory cytokines induce alterations of mitochondrial functions and dynamics in neurons Institute of Neuroscience, National Chengchi University, Taiwan Mitochondrial dysfunction is involved in progranulin-related frontotemporal dementia 1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2Neurogenetics Unit, Rare and Inherited Disease Genomic Laboratory, North Thames Genomic Laboratory Hub, London, UK; 3Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK; 4Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK; 5Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, UK; 6NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK Morphological characterization of the progression of mitochondrial encephalopathy associated with CoQ10 deficiency 1Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2Biofisika Institute (CSIC, UPV-EHU) and Department of Biochemistry and Molecular Biology, University of Basque Country, Leioa, Spain; 3Ibs.Granada, Granada, Spain The vanishing dopamine in Parkinson’s disease IST Austria, Austria Effect of UPO04 depending on GAA triplet hyperexpansion in Friedreich’s ataxia disease. Universidad Pablo de Olavide, Spain New cell model for studying mitochondrial dysfunction in Fragile X-associated tremor/ataxia syndrome Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Poznan, Poland Development of an in vitro platform for preclinical investigations on EPM1 1University of Eastern Finland, Finland; 2Kuopio University Hospital, Finalnd Metabolic rewiring in iPSCs-derived neuron progenitor cells of patients with mutations of mitochondrial SLC25A12/AGC1 carrier 1Department of Biosciences Biotechnologies and Environment, University of Bari, Italy; 2Department of Pharmacy and BioTechnology, University of Bologna, Italy; 3Institute of Human Genetics, University Hospital, Leipzig, Germany; 4Hematology and Cell Therapy Unit, IRCCS-Istituto Tumori "Giovanni Paolo II, Bari, Italy; 5Children's Hospital of Philadelphia Research Institute, Philadelphia, USA; 6University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany Mitochondrial function at the neuromuscular junction in motor neuron disease 1Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom; 2Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, Queen Square, London, UK; 3The Francis Crick Institute, London, UK. A novel WDR45 variant in an encephalopathy mimicking Leigh syndrome with complex I deficiency 1Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; 2Department of Health Sciences,University of Milan, Milan, Italy; 3Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; 4Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy Characterisation of mitochondrial dysfunction in Huntington’s disease patient-derived fibroblasts 1University of Sheffield, Sheffield Institute for Translational Neuroscience, United Kingdom; 2Nanna Therapeutics, Cambridge, UK Loss of mitochondrial chaperone Trap1 in mice causes changes in synaptic mitochondria function Centre of New Technologies, University of Warsaw, Poland Unveiling the metabolic signature of synaptic mitochondria Instituto de Medicina Molecular João Lobo Antunes, Portugal Aberration of mitochondrial ultrastructure in the skeletal muscle in patients with Parkinson’s disease 1Neurocenter, Oulu University Hospital, Oulu, Finland; 2Research Unit of Clinical Medicine, Medical Research Center, University of Oulu and Oulu University Hospital, Oulu Finland; 3Electron microscopy, Biocenter Oulu, University of Oulu, Oulu, Finland; 4Pathology, Turku University Hospital and University of Turku, Turku, Finland; 5Pathology, Oulu University Hospital, Oulu, Finland; 6Division of Orthopaedic and Trauma Surgery, Department of Surgery, Medical Research Center, University of Oulu and Oulu University Hospital, Oulu, Finland New insights into the pathogenicity of the MT-ATP6: m.9176T>C mutation by a patient cohort and transmitochondrial cybrids combined approach 1Mitochondrial Diseases Laboratory, Research Institute, Universitary Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.; 2Department of Pediatric Neurology, Hospital General Universitario de Toledo, Toledo, Spain.; 3Biochemistry Department, Biomedical Research Institute 'Alberto Sols', CSIC, Faculty of Medicine, Autonomous University of Madrid, and Instituto de Investigación Sanitaria Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.; 4iPS Cells Translational Research Group, Research Institute, Universitary Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.; 5Centre for Biomedical Network Research on Rare Diseases (CIBERER), Spain. Determining the contribution of mitochondrial alterations to lung cancer in vivo Karolinska Institute, Sweden Gamma Peptide Nucleic Acids as a Mechanism for Targeting the Mitochondrial Genome 1Department of Bioengineering, University of Pittsburgh, Pittsburgh, Pennsylvania, USA; 2Department of Medicine, Vascular Medicine Institute, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA; 3Department of Chemistry and Center for Nucleic Acids Science and Technology, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA; 4Department of Chemistry, University of Massachusetts Amherst, Amherst, Massachusetts, USA Physiological variability in mitochondrial rRNA may predispose to metabolic syndrome 1Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic; 2Laboratory of Genetics of Model Diseases, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic; 3Laboratory of Translational Metabolism, Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic The European landscape of mitogenomes from LHON patients carrying the m.14484T>C/MT-ND6 pathogenic variant 1University of Bologna, Italy; 2University of Pavia, Pavia, Italy; 3Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, Rome, Italy; 4IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy; 5University of Tuebingen, Tuebingen, Germany; 6Université LUNAM, Angers, France; 7Universidad de Zaragoza, Zaragoza, Spain; 8National Neurological Institute 'C. Besta', Milano, Italy; 9Ludwig-Maximilians-Universität München, Munich, Germany; 10UCLA, Los Angeles, California, USA; 11University of Siena, Siena, Italy; 12University of Newcastle, Newcastle upon Tyne, UK; 13University of Cambridge, Cambridge, UK; 14Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK; 15Erasmus Medical Centre, Rotterdam, The Netherlands; 16PhD, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna Mitochondrial DNA contribution to Parkinsonism: from mtDNA maintenance defects to primary mtDNA pathogenic variants 1IRCCS Istituto delle Scienze Neurologiche, Italy; 2Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy Combined fiber atrophy and impaired muscle regeneration capacity driven by mitochondrial DNA alterations underlie the development of sarcopenia 1Department of Medical Laboratory Sciences, Masinde Muliro University of Science and Technology - Kakamega, Kenya; 2Institute of Vegetative Physiology, University of Cologne - Cologne, Germany; 3Max Planck Institute for Heart and Lung Research - Bad Nauheim, Germany; 4Institute for Cardiovascular Physiology, University Medical Center - Göttingen, Germany; 5Institute of Physiology I, Medical Faculty, University of Bonn - Bonn, Germany; 6Center for Molecular Medicine Cologne - Cologne, Germany; 7Cologne Excellence Cluster on Cellular Stress Responses in Aging-associated Diseases (CECAD) - Cologne, Germany; 8University of Angers, UMR 6015 CNRS / 1083 INSERM, Mitovasc - Angers, France Examining the link between diet and metabolic risk score in individuals with bipolar disorder University of Toronto, Canada Mitochondrial morphology and function in mitochondrial disease 1Newcastle University, United Kingdom; 2Welcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; 3NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, United Kingdom MtDNA sequence and copy number analysis of buffy coat DNA of primary open-angle glaucoma patients 1University Eye Clinic Maastricht, Maastricht University Medical Center+, Maastricht, The Netherlands; 2Department of Toxicogenomics, Maastricht University, Maastricht, The Netherlands; 3School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands; 4Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; 5Department of Dermatology, GROW-school for oncology and reproduction, Maastricht University Medical Center, Maastricht, The Netherlands MELAS syndrome pathophysiology in cellular models of the disease Universidad Pablo de Olavide, Spain Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease 1Otorhinolaryngology, Head and Neck Surgery, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Sweden; 2Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, USA; 3Logopedics, Phoniatrics and Audiology, Department of Clinical Sciences Lund, Lund University, Sweden; 4Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, USA; 5Division of Biostatistics, Department of Pediatrics, Children's Hospital of Philadelphia, USA; 6Mitochondrial Medicine, Department of Clinical Sciences Lund, Lund University, Sweden What can we learn from detrimental mitogenome mutations in cattle? 1University of Zagreb - Faculty of Agriculture, 10000 Zagreb, Croatia; 2University of Ljubljana - Veterinary Faculty, 1000 Ljubljana, Slovenia; 3University of Ljubljana - Biotechnical Faculty, 1000 Ljubljana, Slovenia; 4Croatian Veterinary Institute, 10000 Zagreb, Croatia; 5Agricultural Institute of Slovenia, 1000 Ljubljana, Slovenia Mitochondrial DNA copy number measurements reveal systemic evidence for mitochondrial dysfunction in age-related macular degeneration 1Medical University of Innsbruck, Austria; 2University of Regensburg, Germany Multiple mitochondrial DNA deletions in patients with myopathy 1Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; 2Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA Utilizing donor mitochondrial haplogroup as a potential screening tool for the risk of primary graft dysfunction 1University of Toronto, Canada; 2University Health Network, Toronto A rare variant m.4135T>C in the MT-ND1 gene leads to LHON and altered OXPHOS supercomplexes 1Department of Pediatrics and Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic; 2Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; 3Department of Biochemistry, Faculty of Science, Charles University, Prague, Czech Republic. Mitophagy is stalled in cultured fibroblasts harbouring Parkin mutations 1Department of Women’s and Reproductive Health, University of Oxford, Oxford, UK.; 2Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.; 3Signalling Programme. The Babraham Institute, Cambridge, UK. Impact of mitochondrial DNA modifications in shaping personalized ETC complex activities 1University of Oslo, Norway; 2Oslo University Hospital Elucidating the role of ATF3 in the neuropathology of a mouse model of Leigh Syndrome 1Institut de Neurociències, Universitat Autònoma de Barcelona. Bellaterra (Barcelona) 08193. Spain; 2Department of Cell Biology, Physiology and Immunology, Universitat Autònoma de Barcelona. Bellaterra (Barcelona) 08193. Spain Deciphering the contribution of the Parvalbumin-expressing neurons in the motor, cognitive and social alterations in a mouse model of Leigh Syndrome 1Autonomous University of Barcelona, Bellaterra, Spain; 2Scripps Research, La Jolla, CA, USA CHCHD10 and SLP2 control the stability of the PHB complex : a key factor for motor neuron viability 1Université Côte d’Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice (France); 2Mitochondrial Biology Group, Institut Pasteur, CNRS UMR 3691, Paris (France); 3Université Côte d’Azur, Centre Commun de Microscopie Appliquée, Nice (France); 4Mécanismes Centraux et Périphériques de la Neurodégénérescence, Inserm U1118, UMR S1118, CRBS, Université de Strasbourg, Strasbourg (France) Mitochondrial dysfunction in peripheral blood mononuclear cells in different stages of Huntington´s disease 1Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; 2Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; 3Department of Medical Biochemistry, University of Oslo and Oslo University Hospital, Oslo, Norway. The mitochondrial DNA depletion syndrome protein FBXL4 mediates the degradation of the mitophagy receptors BNIP3 and NIX to suppress mitophagy 1School of Biomedical Sciences, Faculty of Medicine, University of Queensland, Brisbane, Australia; 2Department of Biotechnology, School of Biotechnology, Viet Nam National University-International University, Ho Chi Minh City, Vietnam; 3Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, USA; 4Perlmutter Cancer Center, New York University Grossman School of Medicine, New York, USA; 5The University of Queensland, Institute for Molecular Bioscience, Brisbane, Australia; 6Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 7NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 8The University of Queensland Diamantina Institute, Faculty of Medicine, The University of Queensland, Brisbane, Australia Mitochondria released from astrocytes contribute to the striatal neuronal vulnerability in Huntington’s disease 1Departament de Biomedicina, Facultat de Medicina. Universitat de Barcelona, Spain; 2Institut de Neurociències. Universitat de Barcelona, Spain; 3Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; 4Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. Mitophagy in CHCHD10 related disorders: beneficial or a deleterious pathway? Institute for Research on Cancer and Aging, Nice (IRCAN) - France Harlequin mice exhibit cognitive impairment, severe loss of Purkinje cells and a compromised bioenergetic status due to the absence of Apoptosis Inducing Factor 1Université Paris Cité, NeuroDiderot, Inserm, F-75019 Paris, France; 2Neonatal Research Group, Instituto de Investigación Sanitaria La Fe (IISLAFE), Valencia, Spain; 3Department of Physiology, University of Valencia, Vicent Andrés Estellés s/n, 46100 12 Burjassot, Spain; 4Laboratory of Comparative Neurobiology, Cavanilles Institute of Biodiversity and Evolutionary Biology, University of Valencia, Valencia, Spain; 5Université de Paris, UMR-S 1144 Inserm, 75006 Paris, France; 6Université Paris Cité, Platform of Cellular and Molecular Imaging, US25 Inserm, UAR3612 CNRS, 75006 Paris, France Mitochondrial dysfunction and calcium dysregulation in COQ8A-Ataxia Purkinje neurons are rescued by CoQ10 treatment 1Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS UMR7104, Université de Strasbourg, France; 2Institut NeuroMyoGene, UMR5310, INSERM U1217, Université Claude Bernard Lyon I Faculté de médecine, Lyon, France; 3Institut de Biologie du Développement de Marseille (IBDM), CNRS, UMR7288, Aix-Marseille Université, Marseille, France. Macromolecular crowding: A novel player in mitochondrial physiology and disease 1Radboud University Medical Center, The Netherlands; 2University of Amsterdam, The Netherlands; 3King's College, London, UK; 4University of Twente, The Netherlands; 5Wageningen University, The Netherlands Preserved motor function and striatal innervation despite severe degeneration of dopamine neurons upon mitochondrial dysfunction 1Center for Physiology and Pathophysiology, Faculty of Medicine and University Hospital Cologne, Germany; 2Medical Research Council Mitochondrial Biology Unit, University of Cambridge, UK; 3Medical Research Council Mitochondrial Biology Unit and Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, UK; 4Department of Neurology, Faculty of Medicine and University Hospital Cologne, Germany; 5Institute of Radiochemistry and Experiment Molecular Imaging, Faculty of Medicine and University Hospital of Cologne, Germany; 6Department of Pediatrics and Adolescent Medicine, Experimental Neonatology, Faculty of Medicine and University Hospital Cologne, Germany; 7Center for Physiology and Pathophysiology, Faculty of Medicine and University Hospital Cologne; Cologne Excellence Cluster on Cellular Stress Responses in Aging-associated Diseases (CECAD) and Center for Molecular Medicine Cologne, University of Cologne, Germany The mitochondrial DNA depletion syndrome protein FBXL4 mediates the degradation of the mitophagy receptors BNIP3 and NIX to suppress mitophagy 1School of Biomedical Sciences, Faculty of Medicine, University of Queensland, Brisbane, Australia; 2Department of Biotechnology, School of Biotechnology, Viet Nam National University-International University, Ho Chi Minh City, Vietnam; 3Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, USA; 4Perlmutter Cancer Center, New York University Grossman School of Medicine, New York, USA; 5The University of Queensland, Institute for Molecular Bioscience, Brisbane, Australia; 6Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 7NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 8The University of Queensland Diamantina Institute, Faculty of Medicine, The University of Queensland, Brisbane, Australia Parsing universal heteroplasmy in a large maternal lineage carrying the common LHON variant m.11778G>A/MT-ND4 1Azienda USL di Bologna - IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; 3Istituto Italiano di Tecnologia – IIT, Genova, Italy; 4Instituto de Olhos de Colatina, Colatina, Espírito Santo, Brazil; 5Departamento de Oftalmologia e Ciências Visuais, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, São Paulo, Brazil; 6Doheny Eye Institute, Los Angeles, CA, USA; Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA; 7Medical Research Council Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK PNPLA3, MBOAT7 and TM6SF2 modify mitochondrial dynamics in NAFLD patients: dissecting the role of cell-free circulating mtDNA and copy number 1Fondazione IRCCS Cà Granda Ospedale Policlinico, Italy; 2Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Italy; 3Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Italy The overexpression of TM6SF2 and/or MBOAT7 wild-type genes restores the mitochondrial lifecycle and activity in an in vitro NAFLD model 1Fondazione IRCCS Cà Granda Ospedale Policlinico, Italy; 2Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Italy; 3Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Italy |